Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.
Maugard
C
C
Laboratoire de Biochimie Génétique, CHU de Montpellier, CNS UPR 9008, France.
Tuffery
S
S
Aguilar-Martinez
P
P
Schved
J F
JF
Gris
J C
JC
Demaille
J
J
Claustres
M
M
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D007446:Chromosome Inversion; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D016368:Frameshift Mutation; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D012333:RNA, Messenger / Q000378:metabolism; D014158:Transcription, Genetic
D012333:RNA, Messenger; D005169:Factor VIII